Puck Jennifer M
Department of Pediatrics, Institute for Human Genetics, University of California San Francisco, San Francisco, California 94143-0519, USA.
Curr Opin Allergy Clin Immunol. 2007 Dec;7(6):522-7. doi: 10.1097/ACI.0b013e3282f14a2a.
Severe combined immunodeficiency has been identified as a high-priority disease for inclusion in population-based newborn screening programs. In this review, the justification, advances to date and remaining challenges for universal severe combined immunodeficiency screening are outlined.
Severe combined immunodeficiency is treatable by hematopoietic stem cell transplantation, with best outcome if recognized and treated early in life. Universal screening of newborns could make possible prompt diagnosis and lifesaving treatment for all affected infants. One screening test using the dried blood spots already collected from all newborns involves quantitation of T cell receptor excision circles, and other test methods have been proposed and are being evaluated. Development of screening programs will require integration of screening, contacting infants with abnormal screen results for definitive testing, prompt treatment of affected infants, and outcome tracking.
Newborn screening for severe combined immunodeficiency is advancing toward pilot trials.
严重联合免疫缺陷已被确定为纳入基于人群的新生儿筛查项目的重点疾病。本综述概述了进行普遍严重联合免疫缺陷筛查的理由、迄今取得的进展以及尚存的挑战。
严重联合免疫缺陷可通过造血干细胞移植治疗，若在生命早期得到识别和治疗则效果最佳。对新生儿进行普遍筛查可使所有受影响婴儿得以迅速诊断并接受挽救生命的治疗。一种利用已从所有新生儿采集的干血斑进行的筛查试验涉及T细胞受体切除环的定量分析，其他检测方法也已被提出并正在进行评估。筛查项目的开展将需要整合筛查、联系筛查结果异常的婴儿进行确定性检测、对受影响婴儿进行及时治疗以及跟踪治疗结果。
严重联合免疫缺陷的新生儿筛查正朝着试点试验迈进。
